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Journal of the Formosan Medical Association
Volume 105, Issue 7
, Pages 599-603
, 2006
Novel Mutation in the TSC2 Gene Associated with Prenatally Diagnosed Cardiac Rhabdomyomas and Cerebral Tuberous Sclerosis
References
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Rhabdo-myoma
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In:
Bianchi DW
, Crombleholme TM
, D'Alton ME
editor.
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- Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex . J Pediatr . 2003;143:620–624
- Association between cardiac tumors and tuberous sclerosis in the fetus and neonate . Am J Cardiol . 2003;92:487–489
- Rhabdomyoma in the fetus: illustration of tumor growth during the second half of gestation . Pediatr Cardiol . 2001;22:515–518
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Natural history and long-term outcome of cardiac rhabdomyomas detected prenatally
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. 2004;24:241–248
- Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs . Am J Hum Genet . 2001;68:64–80
- Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 . Science . 1997;277:805–808
- . The identification and characterization of the tuberous sclerosis gene on chromosome 16 . Cell . 1993;75:1305–1315
- Two loci for tuberous sclerosis: one on 9q34 and one on 16p13 . Ann Hum Genet . 1994;58:107–127
- . Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria . Ann N Y Acad Sci. . 1991;615:1–7
- Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2 . Ann Hum Genet . 1999;63:383–391
- Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography . Hum Mutat . 2000;16:417–421
- Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis . Prenat Diagn . 2001;21:279–283
- . Low level mosaicism detectable by DHPLC but not by direct sequencing . Hum Mutat . 2001;17:233–234
- Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene . J Biochem Biophys Methods . 2001;47:33–37
- . Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2 . J Biochem Biophys Methods . 2002;51:161–164
- Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes . Hum Mutat . 2003;21:112–115
- Comprehensive mutation analysis of TSC1 and TSC2-and pheno-typic correlations in 150 families with tuberous sclerosis . Am J Hum Genet . 1999;64:1305–1315
- Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex . Eur J Hum Genet . 2005;13:731–741
PII: S0929-6646(09)60157-1
doi: 10.1016/S0929-6646(09)60157-1
© 2006 Formosan Medical Association & Elsevier. Published by Elsevier Inc. All rights reserved.
« Previous
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Journal of the Formosan Medical Association
Volume 105, Issue 7
, Pages 599-603
, 2006
